目的了解黑色素瘤抗原(MAGE)-A1基因在肝癌组织中的表达状况,探讨该基因是否存在单核苷酸多态性(SNP)。方法用RT-PCR方法检测49例原发性肝细胞性肝癌(HCC)患者肝癌组织MAGE-A1基因mRNA的表达情况,同时提取其中43例HCC患者的肝癌组织、癌旁组织及外周血细胞基因组DNA,PCR扩增MAGE-A1DNA,并对上述PCR产物进行测序。结果49例患者中MAGE-A1mRNA阳性22例,阳性率44.9%。43例HCC患者癌组织、癌旁组织和外周血细胞中扩增的KAGE-A1DNA序列测定显示MAGE-A1基因存在两类变异:TAG有16例,变异发生率为37.2%,包括3个位置的变异:C159T,A272G,G393A,GTG变异有7例,发生率为16.3%,亦包括3个位点的变异即:A272G,C991T,A1125G。因为C991T没有改变编码的氨基酸,A1125G不在编码区,故仅A272G引起一个氨基酸的替换(T32A)。结论MAGE-A1在HCC中高表达,表达率为44.9%。MAGE-A1mRNA的表达与AFP无关。MAGE-A1基因存在三种SNP,但不影响其mRNA的表达。 Objective To investigate the expression of melanoma antigen (MAGE)-A1 gene in hepatocellular carcinoma and to explore whether there is a single nucleotide polymorphism (SNP) in this gene. Methods RT-PCR was used to detect the mRNA expression of MAGE-A1 in 49 cases of primary hepatocellular carcinoma(HCC). At the same time, the genomic DNA of hepatocellular carcinoma tissues, paracancerous tissues and peripheral blood cells were extracted from 43 HCC patients. MAGE-A1 DNA was amplified by PCR and the above PCR products were sequenced. Results Among the 49 patients, 22 were positive for MAGE-A1 mRNA, with a positive rate of 44.9%. The amplified KAGE-A1 DNA sequence of cancerous tissue, paracancerous tissue, and peripheral blood cells of 43 patients with HCC showed two types of MAGE-A1 gene mutations: 16 TAGs and 37.2% mutations, including 3 positional variations. : C159T, A272G, G393A, and GTG mutations were found in 7 cases. The incidence was 16.3%. It also included three site variants: A272G, C991T, and A1125G. Since C991T did not change the encoded amino acid and A1125G was not in the coding region, only A272G caused an amino acid substitution (T32A). Conclusion MAGE-A1 is highly expressed in HCC, with an expression rate of 44.9%. The expression of MAGE-A1 mRNA has nothing to do with AFP. There are three SNPs in the MAGE-A1 gene, but their mRNA expression is not affected.